Risk factors for Dandy-Walker malformation: a population-based assessment.
Matthew R Reeder1, Lorenzo D Botto1, Kim M Keppler-Noreuil2
1Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.
American Journal of Medical Genetics. Part A
|May 6, 2015
Summary
Dandy-Walker malformation (DWM) risk is linked to maternal non-Hispanic black race/ethnicity and infertility history. Further research may identify modifiable factors for this common congenital cerebellar malformation.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Dandy-Walker malformation (DWM) is a frequent congenital cerebellar malformation with largely unknown etiology.
- While genetic factors are increasingly identified, non-genetic, potentially modifiable risk factors require further investigation.
Purpose of the Study:
- To examine maternal, paternal, and infant characteristics, maternal conditions, and periconceptional exposures associated with DWM risk.
- To identify potential modifiable risk factors for DWM, considering gene-environment interactions.
Main Methods:
- Analysis of data from the National Birth Defects Prevention Study (1997-2009).
- Inclusion of 160 infants with DWM and 10,200 unaffected controls.
- Logistic regression used to compute crude (cOR) and adjusted (aOR) odds ratios for risk factors.
Main Results:
- Non-Hispanic black race/ethnicity was associated with increased DWM risk (aOR = 2.0).
- Maternal history of infertility significantly increased DWM risk (all: aOR = 2.4; multiple: aOR = 3.9).
- Few maternal exposures showed an association with DWM.
Conclusions:
- Genetic factors likely play a major role in DWM etiology.
- Associations with maternal race/ethnicity and infertility suggest potential avenues for uncovering modifiable risk factors.
- Further research is warranted to explore gene-environment interactions in DWM development.
Related Concept Videos
01:07Teratogenicity
4.6K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.6K
02:30Genomic Imprinting and Inheritance
38.9K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
38.9K
01:43Sex-linked Disorders
112.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
112.2K
01:19Autism Spectrum Disorder
1.9K
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
1.9K
01:30Attention-Deficit/Hyperactivity Disorder
1.4K
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
1.4K
01:21Nondisjunction
5.9K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
5.9K